نتایج جستجو برای: single nucleotide polymorphisms

تعداد نتایج: 989640  

Recent pre-clinical and clinical studies have revealed the C-reactive protein gene (CRP) is related to the degree of acute rise in plasma C-reactive protein (CRP) levels. Moreover, single nucleotide polymorphisms (SNPs) in the CRP gene could associate with increased risk of cancer, atherosclerosis, diabetes mellitus, bowel disease, rheumatoid arthritis, psoriasis, obstructive pulmonary disease,...

Recent advances in DNA sequencing techniques have led to an increase in the identification of single nucleotide polymorphisms (SNPs) in BRCA1 and BRCA2 genes, but no further information regarding the deleterious probability of many of them is available (Variants of Unknown Significance/VUS). As a result, in the current study, different sequence- and structure-based computation...

Journal: :Conservation Genetics Resources 2021

A set of single nucleotide polymorphisms (SNP) was developed from the transcriptome gorgonian Leptogorgia sarmentosa. 21,491 putative SNPs were identified, and a selected 320 tested using MassARRAY System on 95 samples NW Mediterranean. total 153 successfully genotyped found to be polymorphic. The newly loci will valuable tool for population genetics studies one most ubiquitous species in Medit...

Journal: :Journal of clinical images and medical case reports 2022

Introduction: Graves Disease (GD) is the most common cause of primary hyperthyroidism. It an autoimmune disorder characterized by presence thyrotropin related antibodies that stimulate thyroidal cells, resulting in overproduction thyroid hormones. has been reported cytokines might be involved GD pathogenesis. So, aim present study was to investigate possible associations between IL-37 Single Nu...

Journal: :Bioinformatics 2005
Fengkai Zhang Zhongming Zhao

UNLABELLED SNPNB is a user-friendly and platform-independent application for analyzing Single Nucleotide Polymorphism NeighBoring sequence context and nucleotide bias patterns, and subsequently evaluating the effective SNP size for the bias patterns observed from the whole data. It was implemented by Java and Perl. SNPNB can efficiently handle genome-wide or chromosome-wide SNP data analysis in...

Akbar Dorgalaleh, Farhad Zaker, Hasan Mollanoori, Hojat Shahraki, Majid Fathi, Maryam Daneshi, Omolbanin Sargazi-Aval, Shadi Tabibian, Shahram Teimourian,

Background: Congenital factor XIII (FXIII) deficiency is one of the rarest bleeding disorders with a prevalence of one per 2 million in the general population. The disorder is accompanied by a high rate of life-threatening bleeding. Due to normal results of routine coagulation tests, diagnosis of the disorder is challenging, but molecular methods can be used for precise diagnosis. Direct mutati...

2013
Yu Jin Caroline G. L. Lee

Since the discovery of microRNA (miRNA), the polymorphisms that affect miRNA regulation had been extensively investigated by many independent studies. Recently, researchers utilized bioinformatics and statistical approaches for genome-wide analysis on the human polymorphisms that reside in the miRNA genes, targets, and/or genes involved in miRNA processing. In this review, we will give an overv...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1999
A Collins C Lonjou N E Morton

On the causal hypothesis, most genetic determinants of disease are single-nucleotide polymorphisms (SNPs) that are likely to be selected as markers for positional cloning. On the proximity hypothesis, most disease determinants will not be included among markers but may be detected through linkage disequilibrium with other SNPs. In that event, allelic association among SNPs is an essential facto...

Journal: :BioTechniques 2000
D See V Kanazin H Talbert T Blake

Single-nucleotide polymorphisms (SNPs) represent the most prevalent class of genetic markers available for linkage disequilibrium or cladistic analyses. PCR primers may be labeled with fluorescent dyes and used to rapidly and accurately differentiate among alleles that are defined by a single-nucleotide differences. Here, we describe the primer-mediated detection of SNPs based on primer mismatc...

Journal: :Nucleic acids research 2000
Elizabeth M. Smigielski Karl Sirotkin Minghong Ward Stephen T. Sherry

In response to a need for a general catalog of genome variation to address the large-scale sampling designs required by association studies, gene mapping and evolutionary biology, the National Cancer for Biotechnology Information (NCBI) has established the dbSNP database. Submissions to dbSNP will be integrated with other sources of information at NCBI such as GenBank, PubMed, LocusLink and the...

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